The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?
Several genetic investigations were conducted to identify germline and somatic mutations in somatotropinomas, a subtype of pituitary tumors. To our knowledge, we report the first acromegaly patient carrying a <i>RET</i> pathogenic variant: c.2410G>A (rs79658334), p.Val804Met. Alongsid...
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-02-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/25/3/1895 |
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| author | Sabrina Chiloiro Ettore Domenico Capoluongo Flavia Costanza Angelo Minucci Antonella Giampietro Amato Infante Domenico Milardi Claudio Ricciardi Tenore Maria De Bonis Simona Gaudino Guido Rindi Alessandro Olivi Laura De Marinis Alfredo Pontecorvi Francesco Doglietto Antonio Bianchi |
| author_facet | Sabrina Chiloiro Ettore Domenico Capoluongo Flavia Costanza Angelo Minucci Antonella Giampietro Amato Infante Domenico Milardi Claudio Ricciardi Tenore Maria De Bonis Simona Gaudino Guido Rindi Alessandro Olivi Laura De Marinis Alfredo Pontecorvi Francesco Doglietto Antonio Bianchi |
| author_sort | Sabrina Chiloiro |
| collection | DOAJ |
| description | Several genetic investigations were conducted to identify germline and somatic mutations in somatotropinomas, a subtype of pituitary tumors. To our knowledge, we report the first acromegaly patient carrying a <i>RET</i> pathogenic variant: c.2410G>A (rs79658334), p.Val804Met. Alongside the fact that the patient’s father and daughter carried the same variant, we investigated the clinical significance of this variant in the context of somatotropinomas and other endocrine tumors, reviewing the <i>RET</i> mutations’ oncogenic mechanisms. The aim was to search for new targets to precisely manage and treat acromegaly. Our case describes a new phenotype associated with the <i>RET</i> pathogenic variant, represented by aggressive acromegaly, and suggests consideration for <i>RET</i> mutation screening if NGS for well-established PitNET-associated gene mutations renders negative. |
| first_indexed | 2024-03-08T03:54:47Z |
| format | Article |
| id | doaj.art-881de790f0c74f96ba6ac82071d14fee |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-08T03:54:47Z |
| publishDate | 2024-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-881de790f0c74f96ba6ac82071d14fee2024-02-09T15:15:03ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672024-02-01253189510.3390/ijms25031895The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?Sabrina Chiloiro0Ettore Domenico Capoluongo1Flavia Costanza2Angelo Minucci3Antonella Giampietro4Amato Infante5Domenico Milardi6Claudio Ricciardi Tenore7Maria De Bonis8Simona Gaudino9Guido Rindi10Alessandro Olivi11Laura De Marinis12Alfredo Pontecorvi13Francesco Doglietto14Antonio Bianchi15Department of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, ItalyDepartment of Molecular Medicine and Medical Biotechnology, Federico II University, 80138 Naples, ItalyDepartment of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, ItalyUnit of Molecular Diagnostics and Genomics, Department of Laboratory Sciences and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyDepartment of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, ItalyDepartment of Imaging, Radiation Therapy and Hematology, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00168 Rome, ItalyDepartment of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, ItalyUnit of Molecular Diagnostics and Genomics, Department of Laboratory Sciences and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyUnit of Molecular Diagnostics and Genomics, Department of Laboratory Sciences and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyDepartment of Imaging, Radiation Therapy and Hematology, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00168 Rome, ItalySection of Anatomic Pathology, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, ItalyDepartment of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, L.go A. Gemelli, 8, 00168 Rome, ItalyDepartment of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, ItalyDepartment of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, ItalyDepartment of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, L.go A. Gemelli, 8, 00168 Rome, ItalyDepartment of Translational Medicine and Surgery, Università Cattolica del Sacro, 00168 Rome, ItalySeveral genetic investigations were conducted to identify germline and somatic mutations in somatotropinomas, a subtype of pituitary tumors. To our knowledge, we report the first acromegaly patient carrying a <i>RET</i> pathogenic variant: c.2410G>A (rs79658334), p.Val804Met. Alongside the fact that the patient’s father and daughter carried the same variant, we investigated the clinical significance of this variant in the context of somatotropinomas and other endocrine tumors, reviewing the <i>RET</i> mutations’ oncogenic mechanisms. The aim was to search for new targets to precisely manage and treat acromegaly. Our case describes a new phenotype associated with the <i>RET</i> pathogenic variant, represented by aggressive acromegaly, and suggests consideration for <i>RET</i> mutation screening if NGS for well-established PitNET-associated gene mutations renders negative.https://www.mdpi.com/1422-0067/25/3/1895RET mutationacromegalygeneticsprecision medicinehereditary cancer-predisposing syndrome |
| spellingShingle | Sabrina Chiloiro Ettore Domenico Capoluongo Flavia Costanza Angelo Minucci Antonella Giampietro Amato Infante Domenico Milardi Claudio Ricciardi Tenore Maria De Bonis Simona Gaudino Guido Rindi Alessandro Olivi Laura De Marinis Alfredo Pontecorvi Francesco Doglietto Antonio Bianchi The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype? International Journal of Molecular Sciences RET mutation acromegaly genetics precision medicine hereditary cancer-predisposing syndrome |
| title | The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype? |
| title_full | The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype? |
| title_fullStr | The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype? |
| title_full_unstemmed | The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype? |
| title_short | The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype? |
| title_sort | pathogenic ret val804met variant in acromegaly a new clinical phenotype |
| topic | RET mutation acromegaly genetics precision medicine hereditary cancer-predisposing syndrome |
| url | https://www.mdpi.com/1422-0067/25/3/1895 |
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